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Dentin dysplasia

MedGen UID:
8310
•Concept ID:
C0011430
•
Disease or Syndrome
Synonyms: Dentin Dysplasia; Dentin Dysplasias; Dysplasia, Dentin; Dysplasias, Dentin
SNOMED CT: Dentin dysplasia (109492001); Dentinal dysplasia (109492001); Dentine dysplasia (109492001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
HPO: HP:0033784
Monarch Initiative: MONDO:0015613
Orphanet: ORPHA1653

Definition

This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications. [from HPO]

Professional guidelines

PubMed

A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.
Yuan M, Zheng X, Xue Y, He Z, Song G, Song Y
Oral Dis 2023 Sep;29(6):2394-2400. Epub 2023 Jan 13 doi: 10.1111/odi.14494. PMID: 36597617
Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia.
Li F, Liu Y, Liu H, Yang J, Zhang F, Feng H
Oral Dis 2017 Apr;23(3):360-366. Epub 2017 Jan 24 doi: 10.1111/odi.12621. PMID: 27973701
Heritable dentin defects: nosology, pathology, and treatment.
Ranta H, Lukinmaa PL, Waltimo J
Am J Med Genet 1993 Jan 15;45(2):193-200. doi: 10.1002/ajmg.1320450209. PMID: 8456802

Recent clinical studies

Etiology

The Modified Shields Classification and 12 Families with Defined DSPP Mutations.
Simmer JP, Zhang H, Moon SJH, Donnelly LA, Lee YL, Seymen F, Koruyucu M, Chan HC, Lee KY, Wu S, Hsiang CL, Tsai ATP, Slayton RL, Morrow M, Wang SK, Shields ED, Hu JC
Genes (Basel) 2022 May 12;13(5) doi: 10.3390/genes13050858. PMID: 35627243Free PMC Article
Molar-incisor malformation: Eight new cases and a review of the literature.
Vargo RJ, Reddy R, Da Costa WB, Mugayar LRF, Islam MN, Potluri A
Int J Paediatr Dent 2020 Mar;30(2):216-224. Epub 2019 Nov 14 doi: 10.1111/ipd.12592. PMID: 31677309
Hereditary dentine diseases resulting from mutations in DSPP gene.
Maciejewska I, Chomik E
J Dent 2012 Jul;40(7):542-8. Epub 2012 Apr 19 doi: 10.1016/j.jdent.2012.04.004. PMID: 22521702
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article
Molecular basis of human dentin diseases.
MacDougall M, Dong J, Acevedo AC
Am J Med Genet A 2006 Dec 1;140(23):2536-46. doi: 10.1002/ajmg.a.31359. PMID: 16955410

Diagnosis

Hereditary dentin defects with systemic diseases.
Su T, Zhu Y, Wang X, Zhu Q, Duan X
Oral Dis 2023 Sep;29(6):2376-2393. Epub 2023 Apr 24 doi: 10.1111/odi.14589. PMID: 37094075
A Review of Dentinogenesis Imperfecta and Primary Dentin Disorders in Dogs.
Mack Wilson J, Bell C, Queck K, Scott K
J Vet Dent 2022 Dec;39(4):376-390. Epub 2022 Sep 15 doi: 10.1177/08987564221123419. PMID: 36113440
Dentin dysplasia type I-A dental disease with genetic heterogeneity.
Chen D, Li X, Lu F, Wang Y, Xiong F, Li Q
Oral Dis 2019 Mar;25(2):439-446. Epub 2018 Apr 10 doi: 10.1111/odi.12861. PMID: 29575674Free PMC Article
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.
de La Dure-Molla M, Philippe Fournier B, Berdal A
Eur J Hum Genet 2015 Apr;23(4):445-51. Epub 2014 Aug 13 doi: 10.1038/ejhg.2014.159. PMID: 25118030Free PMC Article
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article

Therapy

Periapical Microsurgery: Do Root Canal-retreated Teeth Have More Dentinal Defects?
Tawil PZ, Arnarsdottir EK, Phillips C, Saemundsson SR
J Endod 2018 Oct;44(10):1487-1491. Epub 2018 Aug 31 doi: 10.1016/j.joen.2018.06.018. PMID: 30174106
Melorheostosis: a rare entity: a case report.
Kherfani A, Mahjoub H
Pan Afr Med J 2014;18:251. Epub 2014 Jul 26 doi: 10.11604/pamj.2014.18.251.4661. PMID: 25489356Free PMC Article
Periodontal status of patients with dentin dysplasia type I: report of three cases within a family.
Da Rós Gonçalves L, Oliveira CA, Holanda R, Silva-Boghossian CM, Colombo AP, Maia LC, Feres-Filho EJ
J Periodontol 2008 Jul;79(7):1304-11. doi: 10.1902/jop.2008.070426. PMID: 18597615
Radiographic root abnormality.
Summersgill KF, Ruprecht A
Iowa Dent J 1993 Jan;79(1):10, 12. PMID: 8330957
Nutritional changes in the oral cavity.
Dreizen S
J Prosthet Dent 1966 Nov-Dec;16(6):1144-50. doi: 10.1016/0022-3913(66)90182-x. PMID: 5223837

Prognosis

A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.
Yuan M, Zheng X, Xue Y, He Z, Song G, Song Y
Oral Dis 2023 Sep;29(6):2394-2400. Epub 2023 Jan 13 doi: 10.1111/odi.14494. PMID: 36597617
Dentinogenesis imperfecta type II in Swedish children and adolescents.
Andersson K, Malmgren B, Åström E, Dahllöf G
Orphanet J Rare Dis 2018 Aug 22;13(1):145. doi: 10.1186/s13023-018-0887-2. PMID: 30134932Free PMC Article
A splicing mutation in VPS4B causes dentin dysplasia I.
Yang Q, Chen D, Xiong F, Chen D, Liu C, Liu Y, Yu Q, Xiong J, Liu J, Li K, Zhao L, Ye Y, Zhou H, Hu L, Tian Z, Shang X, Zhang L, Wei X, Zhou W, Li D, Zhang W, Xu X
J Med Genet 2016 Sep;53(9):624-33. Epub 2016 May 31 doi: 10.1136/jmedgenet-2015-103619. PMID: 27247351
Functional splicing assay of DSPP mutations in hereditary dentin defects.
Lee KE, Lee SK, Jung SE, Lee Zh, Kim JW
Oral Dis 2011 Oct;17(7):690-5. Epub 2011 Jul 8 doi: 10.1111/j.1601-0825.2011.01825.x. PMID: 21736673
A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene.
McKnight DA, Suzanne Hart P, Hart TC, Hartsfield JK, Wilson A, Wright JT, Fisher LW
Hum Mutat 2008 Dec;29(12):1392-404. doi: 10.1002/humu.20783. PMID: 18521831Free PMC Article

Clinical prediction guides

A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.
Yuan M, Zheng X, Xue Y, He Z, Song G, Song Y
Oral Dis 2023 Sep;29(6):2394-2400. Epub 2023 Jan 13 doi: 10.1111/odi.14494. PMID: 36597617
A Review of Dentinogenesis Imperfecta and Primary Dentin Disorders in Dogs.
Mack Wilson J, Bell C, Queck K, Scott K
J Vet Dent 2022 Dec;39(4):376-390. Epub 2022 Sep 15 doi: 10.1177/08987564221123419. PMID: 36113440
The Modified Shields Classification and 12 Families with Defined DSPP Mutations.
Simmer JP, Zhang H, Moon SJH, Donnelly LA, Lee YL, Seymen F, Koruyucu M, Chan HC, Lee KY, Wu S, Hsiang CL, Tsai ATP, Slayton RL, Morrow M, Wang SK, Shields ED, Hu JC
Genes (Basel) 2022 May 12;13(5) doi: 10.3390/genes13050858. PMID: 35627243Free PMC Article
Dentin Dysplasia in Notum Knockout Mice.
Vogel P, Read RW, Hansen GM, Powell DR, Kantaputra PN, Zambrowicz B, Brommage R
Vet Pathol 2016 Jul;53(4):853-62. Epub 2016 Feb 29 doi: 10.1177/0300985815626778. PMID: 26926082
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.
de La Dure-Molla M, Philippe Fournier B, Berdal A
Eur J Hum Genet 2015 Apr;23(4):445-51. Epub 2014 Aug 13 doi: 10.1038/ejhg.2014.159. PMID: 25118030Free PMC Article

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